Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T

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DOI
10.1016/j.gim.2022.06.007
Published
2022 Oct
Container
Genetics in medicine : official journal of the American College of Medical Genetics
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.gim.2022.06.007,
  title = {Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.},
  author = {de Boer E and Ockeloen CW and Kampen RA and Hampstead JE and Dingemans AJM and Rots D and Lütje L and Ashraf T and Baker R and Barat-Houari M and Angle B and Chatron N and Denommé-Pichon AS and Devinsky O and Dubourg C and Elmslie F and Elloumi HZ and Faivre L and Fitzgerald-Butt S and Geneviève D and Goos JAC and Helm BM and Kini U and Lasa-Aranzasti A and Lesca G and Lynch SA and Mathijssen IMJ and McGowan R and Monaghan KG and Odent S and Pfundt R and Putoux A and van Reeuwijk J and Santen GWE and Sasaki E and Sorlin A and van der Spek PJ and Stegmann APA and Swagemakers SMA and Valenzuela I and Viora-Dupont E and Vitobello A and Ware SM and Wéber M and Gilissen C and Low KJ and Fisher SE and Vissers LELM and Wong MMK and Kleefstra T},
  year = {2022},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2022.06.007},
  url = {https://doi.org/10.1016/j.gim.2022.06.007}
}

RIS

TY  - JOUR
TI  - Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
AU  - de Boer E
AU  - Ockeloen CW
AU  - Kampen RA
AU  - Hampstead JE
AU  - Dingemans AJM
AU  - Rots D
AU  - Lütje L
AU  - Ashraf T
AU  - Baker R
AU  - Barat-Houari M
AU  - Angle B
AU  - Chatron N
AU  - Denommé-Pichon AS
AU  - Devinsky O
AU  - Dubourg C
AU  - Elmslie F
AU  - Elloumi HZ
AU  - Faivre L
AU  - Fitzgerald-Butt S
AU  - Geneviève D
AU  - Goos JAC
AU  - Helm BM
AU  - Kini U
AU  - Lasa-Aranzasti A
AU  - Lesca G
AU  - Lynch SA
AU  - Mathijssen IMJ
AU  - McGowan R
AU  - Monaghan KG
AU  - Odent S
AU  - Pfundt R
AU  - Putoux A
AU  - van Reeuwijk J
AU  - Santen GWE
AU  - Sasaki E
AU  - Sorlin A
AU  - van der Spek PJ
AU  - Stegmann APA
AU  - Swagemakers SMA
AU  - Valenzuela I
AU  - Viora-Dupont E
AU  - Vitobello A
AU  - Ware SM
AU  - Wéber M
AU  - Gilissen C
AU  - Low KJ
AU  - Fisher SE
AU  - Vissers LELM
AU  - Wong MMK
AU  - Kleefstra T
PY  - 2022
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2022.06.007
UR  - https://doi.org/10.1016/j.gim.2022.06.007
ER  -

APA

E, D. B., CW, O., RA, K., JE, H., AJM, D., D, R., L, L., T, A., R, B., M, B., B, A., N, C., AS, D., O, D., C, D., F, E., HZ, E., L, F., S, F., D, G., JAC, G., BM, H., U, K., A, L., G, L., SA, L., IMJ, M., R, M., KG, M., S, O., R, P., A, P., J, V. R., GWE, S., E, S., A, S., PJ, V. D. S., APA, S., SMA, S., I, V., E, V., A, V., SM, W., M, W., C, G., KJ, L., SE, F., LELM, V., MMK, W., & T, K. (2022). Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2022.06.007

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